McCune-Albright syndrome

MIM.174800 20q13.3

Wednesday 27 June 2007

The McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia, pigment patches of the skin and endocrinologic abnormalities, including precocious puberty, thyrotoxicosis, pituitary gigantism, and Cushing syndrome (MIM.219080). It is usually caused by mosaicism for a mutation in the GNAS1 gene.